Pejvakin

Alternative Names

  • PJVK
  • DFNB59 Gene
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OMIM Number

610219

NCBI Gene ID

494513

Uniprot ID

Q0ZLH3

Length

10,818 bases

No. of Exons

10

No. of isoforms

1

Protein Name

Pejvakin

Molecular Mass

39913 Da

Amino Acid Count

352

Genomic Location

chr2:178,450,591-178,467,548

Gene Map Locus
2q31.2

Description

Pejvakin is a new member of the gasdermin protein family. Little is known about the function of gasdermin proteins. Pejvakin is expressed in hair cells, supporting cells, spiral ganglion cells, and the first three relays of the afferent auditory pathway. These findings suggest that Pejvakin controls the function of hair cells and afferent neurons, however, it may not be essential for the development or maintenance of these cell types.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001042702.5:c.113dupMoroccochr2:178453522PathogenicPathogenicDeafness, Autosomal Recessive 59NG_012186.1:g.7087dup; NM_001042702.5:c.113dup; NP_001356841.1:p.Lys41fs15593659851299
NM_001042702.5:c.406C>TPalestinechr2:178454526PathogenicPathogenicDeafness, Autosomal Recessive 59NG_012186.1:g.8091C>T; NM_001042702.5:c.406C>T; NP_001356841.1:p.Arg136Ter367688416560905
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